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Neurogenetics|April 21, 2015
A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegenerationNadirah Damseh, Chris M Danson, Motee Al-Ashhab, et al.Gastroenterology|December 6, 2014
Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasiaEyal Shteyer, Simon Edvardson, Sarah L Wynia-Smith, et al.Oncotarget|December 20, 2015
Cytokine secretion and NK cell activity in human ADAM17 deficiencyPinchas Tsukerman, Eli M Eisenstein, Maor Chavkin, et al.Journal of Medical Genetics|June 5, 2015
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelinationNadirah Damseh, Alexandre Simonin, Chaim Jalas, et al.Pageof 2